Vacuum-assisted biopsy and steroid therapy for granulomatous lobular mastitis: report of three cases.

We report the cases of three patients with granulomatous lobular mastitis (GLM), who were treated successfully with low-dose steroid therapy. Furthermore, the findings of our review of 271 patients reported in the literature suggest that steroid therapy is the treatment of choice for GLM

HBME-1 and CK19 are highly discriminatory in the cytological diagnosis of papillary thyroid carcinoma

10.1002/dc.20841Diagnostic Cytopathology368550-556DICY

Endoscopic biopsy features and diagnostic challenges of adult Crohn's disease at initial presentation

10.3109/00313020903494979Pathology422131-137PTLG

RUNX3 Inactivation in Colorectal Polyps Arising Through Different Pathways of Colonic Carcinogenesis

10.1038/ajg.2008.141American Journal of Gastroenterology1042426-436AJGA

Supplementary Material for: A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes

<b><i>Background:</i></b> Hereditary tumour predisposition syndromes may increase the risk for development of thyroid nodules at a young age. We present the case of an adolescent female with Cowden syndrome who had some atypical phenotypic features which overlapped with the DICER1 syndrome. <b><i>Material and Methods:</i></b> A 17-year-old female presented with a 3-month history of progressive right neck swelling. Fine needle cytology of the thyroid revealed a follicular neoplasm with features suggestive of follicular variant of papillary thyroid carcinoma and she underwent a hemithyroidectomy. Enlarging nodules in the remaining thyroid led to a completion thyroidectomy at 19 years of age. The patient’s past medical history included an ovarian mixed malignant germ cell tumour, pulmonary nodules and cysts, renal cysts, mucocutaneous lesions, an arachnoid cyst, and a fibrous breast lesion. Macrocephaly was noted on physical examination. <b><i>Results:</i></b> Based on the patient’s complex phenotype and young age, a hereditary predisposition syndrome was suspected and genetic testing of <i>PTEN</i> and <i>DICER1</i> was undertaken. A heterozygous truncating germ-line <i>PTEN</i> mutation was identified, which combined with clinical findings, met criteria for the diagnosis of Cowden syndrome. Additional loss of heterozygosity of the wild-type <i>PTEN</i> allele was detected in the right thyroid lesion and ovarian tumour. No <i>DICER1</i> mutations were identified. <b><i>Conclusions:</i></b> Genetic testing was crucial in elucidating this patient’s predisposition to the early development of neoplastic and non-neoplastic conditions. Our report also highlights the phenotypic overlap between the Cowden and DICER1 syndromes and illustrates the importance of recognising the variable phenotypic features of hereditary syndromes in order to enable timely implementation of appropriate care